Linked Data
ClinVar Variation Id:
1282542
ClinVar RCV Id:
RCV001695934
dbSNP Id:
rs11285784
gnomAD v2:
1-40312702-A-AT
gnomAD v3:
1-39847030-A-AT
gnomAD v4:
1-39847030-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847044dup , CM000663.2:g.39847044dup | GRCh38 |
| NC_000001.10:g.40312716dup , CM000663.1:g.40312716dup | GRCh37 |
| NC_000001.9:g.40085303dup | NCBI36 |
| NG_042822.1:g.41481dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316891.10:c.1006+189dup MANE Select | ENSP00000321810.5:n.1006+189dup | |
| ENST00000648678.1:c.1898+189dup | ENSP00000497805.1:n.1898+189dup | |
| ENST00000316891.9:c.1006+189dup | ENSP00000321810.5:n.1006+189dup | |
| ENST00000372818.5:c.928+517dup | ENSP00000361905.1:n.928+517dup | |
| ENST00000441669.6:c.760+189dup | ENSP00000388333.2:n.760+189dup | |
| ENST00000462797.5:c.1006+189dup | ENSP00000473773.1:n.1006+189dup | |
| ENST00000465417.5:n.190+189dup | ||
| ENST00000491865.5:n.241+189dup | ||
| ENST00000492612.6:c.850+189dup | ||
| ENST00000495175.6:c.*428+189dup | ENSP00000474264.1:n.*428+189dup | |
| ENST00000537440.5:c.94+189dup | ENSP00000437700.1:n.94+189dup | |
| ENST00000541099.5:c.-140-2391dup | ENSP00000437896.1:n.-140-2391dup | |
| NM_001312691.1:c.928+517dup | NP_001299620.1:n.928+517dup | |
| NM_001312692.1:c.760+189dup | NP_001299621.1:n.760+189dup | |
| NM_017646.4:c.1006+189dup | NP_060116.2:n.1006+189dup | |
| NM_017646.5:c.1006+189dup | NP_060116.2:n.1006+189dup | |
| NR_132401.1:n.1022+189dup | ||
| NR_132402.1:n.880+189dup | ||
| NR_132403.1:n.876+189dup | ||
| NR_132404.1:n.876+189dup | ||
| NR_132405.1:n.872+189dup | ||
| NR_132406.1:n.763+189dup | ||
| NR_132407.1:n.640+189dup | ||
| NR_132408.1:n.636+189dup | ||
| NR_132409.1:n.497+189dup | ||
| NR_132410.1:n.523+189dup | ||
| NR_132412.1:n.384+189dup | ||
| NR_132413.1:n.195-2391dup | ||
| NR_132414.1:n.195-5118dup | ||
| NR_132415.1:n.1113+189dup | ||
| XM_005270954.1:c.763+189dup | XP_005271011.1:n.763+189dup | |
| XM_006710706.1:c.583+189dup | XP_006710769.1:n.583+189dup | |
| XM_005270954.2:c.763+189dup | XP_005271011.1:n.763+189dup | |
| XR_946672.2:n.1106+189dup | ||
| NM_017646.6:c.1006+189dup MANE Select | NP_060116.2:n.1006+189dup |